title: Application of UKHCDO 2004 guidelines in type 1 von Willebrand Disease--a single centre paediatric experience of the implications of altered or removed diagnosis.
abstract: Diagnosis of type I von Willebrand Disease (VWD) can be challenging. In 2004, the United Kingdom Haemophilia Centre Doctors' Organisation (UKHCDO) proposed more stringent diagnostic criteria to replace the 1995 guidelines. To determine the true number of cases of type 1 VWD in a single paediatric centre, the 2004 UKHCDO Guideline for the diagnosis of VWD was used to evaluate 114 patients on our type 1 VWD register. Clinical and laboratory data were collected and analysed to see whether they met the criteria for type 1 VWD. Only 8% remained on the type 1 VWD register. 18% have been classified as 'possible type 1 VWD'. Twenty five surgical procedures have since been performed on patients from the group in which the diagnosis was removed without any haemostatic support or bleeding complications. Reaction to the removal of the VWD diagnosis or delivery of an alternative diagnosis was positive for most patients and families. This study is the first to assess the impact of the 2004 UKHCDO Guidelines on the diagnosis of VWD. It provides evidence that the prevalence of type 1 VWD may actually be closer to that of haemophilia instead of the previously reported 1-3% of the general population. We propose that all centres should review their patients with a diagnosis of VWD to revalidate this disease that claims to be our most common inherited bleeding disorder.
authors.affiliation: Haematology Treatment Centre, Alder Hey Children's NHS Foundation Trust, Eaton Road, West Derby, Liverpool, UK.
authors.forename: T
authors.initials: T
authors.lastname: Dutt
authors.forename: S
authors.initials: S
authors.lastname: Burns
authors.forename: N
authors.initials: N
authors.lastname: Mackett
authors.forename: C
authors.initials: C
authors.lastname: Benfield
authors.forename: R
authors.initials: R
authors.lastname: Lwin
authors.forename: R
authors.initials: R
authors.lastname: Keenan
mesh_terms: D002648:Child; D002662:Child Health Services / Q000592:standards; D002675:Child, Preschool; D006403:Hematologic Tests / Q000379:methods*; D006801:Humans; D008487:Medical History Taking; D017410:Practice Guidelines as Topic; D012189:Retrospective Studies; D006113:United Kingdom; D056725:von Willebrand Disease, Type 1 / Q000175:diagnosis*; D014841:von Willebrand Factor / Q000378:metabolism
chemical_list: D014841:von Willebrand Factor